No paralogue variants have been mapped to residue 846 for KCNH2.
| KCNH2 | GKSNGDVRALTYCDLHKIHRDDLLEVLDMY>P<EFSDHFWSSL--EIT-FNLRDTNM-IP-GS | 871 |
| KCNH1 | AQSCANVRALTYCDLHVIKRDALQKVLEFY>T<AFSHSFSRNL--ILT-YNLRKRIV-FRKIS | 711 |
| KCNH3 | VKANADVKGLTYCVLQCLQLAGLHDSLALY>P<EFAPRFSRGLRGELS-YNLGAGGG-SAEVD | 714 |
| KCNH4 | LKTSADVKALTYCGLQQLSSRGLAEVLRLY>P<EYGAAFRAGLPRDLT-FNLRQGSD-TSGLS | 698 |
| KCNH5 | AHACANVRALTYCDLHIIKREALLKVLDFY>T<AFANSFSRNL--TLT-CNLRKRII-FRKIS | 680 |
| KCNH6 | GKSSADVRALTYCDLHKIQRADLLEVLDMY>P<AFAESFWSKL--EVT-FNLRDAAG-GL--- | 721 |
| KCNH7 | GKSNADVRALTYCDLHKIQREDLLEVLDMY>P<EFSDHFLTNL--ELT-FNLRHESA-KA-DL | 874 |
| KCNH8 | IKTNADVKALTYCDLQCIILKGLFEVLDLY>P<EYAHKFVEDIQHDLT-YNLREGHE-SDVIS | 683 |
| CNGA1 | NRRTANIKSIGYSDLFCLSKDDLMEALTEY>P<DAKTMLEEKGKQILMKDGLLDLNI-ANAGS | 618 |
| CNGA2 | NRRTANIRSLGYSDLFCLSKDDLMEAVTEY>P<DAKKVLEERGREILMKEGLLDENE-VATS- | 592 |
| CNGA3 | NRRTANIRSIGYSDLFCLSKDDLMEALTEY>P<EAKKALEEKGRQILMKDNLIDEEL-ARAGA | 621 |
| CNGA4 | NRRTANIKSLGYSDLFCLSKEDLREVLSEY>P<QAQTIMEEKGREILLKMNKLDVNA-EAAEI | 487 |
| CNGB1 | NRRTANVVAHGFTNLFILDKKDLNEILVHY>P<ESQKLLRKKARRMLRSNNKPK------EE- | 1093 |
| CNGB3 | NRRTANVVAHGFANLLTLDKKTLQEILVHY>P<DSERILMKKARVLLKQKAKTA-EATPPRK- | 660 |
| HCN1 | -RRTASVRADTYCRLYSLSVDNFNEVLEEY>P<MMRRAFETVAIDRLDRIGKKNSIL-LQKFQ | 606 |
| HCN2 | -RRTASVRADTYCRLYSLSVDNFNEVLEEY>P<MMRRAFETVAIDRLDRIGKKNSIL-LHKVQ | 675 |
| HCN3 | -RRTASVRADTYCRLYSLSVDHFNAVLEEF>P<MMRRAFETVAMDRLLRIGKKNSIL-QRKRS | 559 |
| HCN4 | -RRTASVRADTYCRLYSLSVDNFNEVLEEY>P<MMRRAFETVALDRLDRIGKKNSIL-LHKVQ | 726 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P846S | c.2536C>T | Inherited Arrhythmia | LQTS | rs199473006 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
| Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
| p.P846T | c.2536C>A | Inherited Arrhythmia | LQTS | rs199473006 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | ||
| Inherited Arrhythmia | LQTS | Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome. Circ J. 2010 74(12):2562-71. 20975234 | |||
| p.P846A | c.2536C>G | Putative Benign | rs199473006 | SIFT: deleterious Polyphen: probably damaging | |